Sequence information
Variant position: 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 405 The length of the canonical sequence.
Location on the sequence:
FFGALELTKGLLPLLRSSRG
R IVTVGSPAGDMPYPCLGAYG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FFGALELTKGLLPLLRSSRGR IVTVGSPAGDMPYPCLGAYG
Mouse FFGALELTKGLLPLLRHSRGR IVTVGSPAGDMPYPCLAAYG
Rat FFGALELTKGLLPLLRHSRGR IVTVGSPAGDMPYPCLAAYG
Bovine FFGALEMTKGLLPLLRRSSGR IVTVSSPAGDMPFPCLAAYG
Rabbit FFGALELTKGLLPLLHHSRGR IVTLGSPAGEMPYPCLAAYG
Sheep FFGALEMTKGLLPLLRRSSGR IVTVSSPAGDMPFPCLAAYG
Zebrafish FFGTVTVTRTFLPLLRQSKGR IVTISSPSGEHPFPCLASYG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 405
11-beta-hydroxysteroid dehydrogenase type 2
Active site
232 – 232
Proton acceptor
Binding site
219 – 219
Literature citations
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
Mune T.; Rogerson F.M.; Nikkilae H.; Agarwal A.K.; White P.C.;
Nat. Genet. 10:394-399(1995)
Cited for: CHARACTERIZATION OF VARIANTS AME CYS-208; CYS-213; 250-PRO-SER-251 AND 337-ARG-TYR-338 DELINS HIS;
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
Rogoff D.; Smolenicka Z.; Bergada I.; Vallejo G.; Barontini M.; Heinrich J.J.; Ferrari P.;
J. Clin. Endocrinol. Metab. 83:4391-4393(1998)
Cited for: CHARACTERIZATION OF VARIANT AME CYS-213;
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess.
Morineau G.; Marc J.-M.; Boudi A.; Galons H.; Gourmelen M.; Corvol P.; Pascoe L.; Fiet J.;
Hypertension 34:435-441(1999)
Cited for: CHARACTERIZATION OF VARIANTS AME CYS-213 AND VAL-328;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.